Cystic Kidney Disease: Disease Spectrum and Genotype-Phenotype Correlations

This study seeks to characterize the genetic landscape of Autosomal Dominant Polycystic Kidney Disease (ADPKD). Sequencing data is primarily derived from a short-read targeted-Next Generation Sequencing (tNGS) custom panel of known and candidate genes towards polycystic kidney/liver diseases and ciliopathies. To understand the severity of the disease in individual patients, we have provided relevant phenotype information when available. This study is part of a multi-year effort; all submissions will be tied to this overarching dbGaP study to ensure continuity and facilitate integrated data access. Version 1 contains the tNGS sequencing data (BAM, gVCF, VCF) of Mayo Clinic patients with cystic kidney and/or cystic liver disease that were either negative for PKD1 or PKD2 pathogenic... (for more see dbGaP study page.)